The differential diagnosis of children with joint hypermobility: A review of the literature

Louise J. Tofts*, Elizabeth J. Elliott, Craig Munns, Verity Pacey, David O. Sillence

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

52 Citations (Scopus)
9 Downloads (Pure)


Background: In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related symptoms. Methods: We searched Medline for papers with an emphasis on the diagnosis of joint hypermobility, including Heritable Disorders of Connective Tissue (HDCT). Results: 3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility. There are inconsistencies in the literature on joint hypermobility and how it relates to and overlaps with milder forms of HDCT. There is no reliable method of differentiating between Joint Hypermobility Syndrome, familial articular hypermobility and Ehlers-Danlos syndrome (hypermobile type), suggesting these three disorders may be different manifestations of the same spectrum of disorders. We describe our approach to children presenting with joint hypermobility and the published evidence and expert opinion on which this is based. Conclusion: There is value in identifying both the underlying genetic cause of joint hypermobility in an individual child and those hypermobile children who have symptoms such as pain and fatigue and might benefit from multidisciplinary rehabilitation management. Every effort should be made to diagnose the underlying disorder responsible for joint hypermobility which may only become apparent over time. We recommend that the term "Joint Hypermobility Syndrome" is used for children with symptomatic joint hypermobility resulting from any underlying HDCT and that these children are best described using both the term Joint Hypermobility Syndrome and their HDCT diagnosis.

Original languageEnglish
Article number1
Pages (from-to)1-10
Number of pages10
JournalPediatric Rheumatology
Publication statusPublished - 5 Jan 2009
Externally publishedYes

Bibliographical note

This version is archived for private and non-commercial use under the terms of this BioMed Central open access license ("license") (see The work is protected by copyright and/or other applicable law. Any use of the work other than as authorized under this license is prohibited. For further rights please check the terms of the license, or contact the publisher.


Dive into the research topics of 'The differential diagnosis of children with joint hypermobility: A review of the literature'. Together they form a unique fingerprint.

Cite this